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Zhiyv Niu

Showing results (1-10 of 65) with videos related to

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Genetics in Medicine Open|December 13, 2024
Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)Sheri A Poskanzer, Loren D M Peña, Zhiyv Niu, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
RYR1 causing distal myopathyRuple S Laughlin, Zhiyv Niu, Eric Wieben, et al.
Neuromuscular Disorders : NMD|April 17, 2019
ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuolesTeerin Liewluck, Zhiyv Niu, Steven A Moore, et al.
Stem Cells International|February 24, 2016
Chemokine (C-X-C) Ligand 12 Facilitates Trafficking of Donor Spermatogonial Stem CellsZhiyv Niu, Shaun M Goodyear, Mary R Avarbock, et al.
Neuromuscular Disorders : NMD|May 13, 2022
A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathyPitcha Chompoopong, Margherita Milone, Zhiyv Niu, et al.
European Journal of Neurology|June 29, 2026
Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial DysfunctionMariana Manoel Oku, Zhiyv Niu, Duygu Selcen, et al.
JAMA Neurology|December 8, 2015
Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic DysfunctionElizabeth A Coon, J Eric Ahlskog, Marc C Patterson, et al.
Parkinsonism & Related Disorders|September 26, 2025
VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's diseaseLorenzo Malfer, Capucine Piat, Eduardo E Benarroch, et al.
Neurology. Genetics|January 16, 2019
A <i>tropomyosin-receptor kinase-fused</i> gene mutation associates with vacuolar myopathyNicolas N Madigan, Jennifer A Tracy, William J Litchy, et al.
Neuromuscular Disorders : NMD|January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalanceMichelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
Pageof 7

Showing results (1-10 of 65) with videos related to

Sort By:
Pageof 7
Genetics in Medicine Open|December 13, 2024
Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)Sheri A Poskanzer, Loren D M Peña, Zhiyv Niu, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
RYR1 causing distal myopathyRuple S Laughlin, Zhiyv Niu, Eric Wieben, et al.
Neuromuscular Disorders : NMD|April 17, 2019
ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuolesTeerin Liewluck, Zhiyv Niu, Steven A Moore, et al.
Stem Cells International|February 24, 2016
Chemokine (C-X-C) Ligand 12 Facilitates Trafficking of Donor Spermatogonial Stem CellsZhiyv Niu, Shaun M Goodyear, Mary R Avarbock, et al.
Neuromuscular Disorders : NMD|May 13, 2022
A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathyPitcha Chompoopong, Margherita Milone, Zhiyv Niu, et al.
European Journal of Neurology|June 29, 2026
Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial DysfunctionMariana Manoel Oku, Zhiyv Niu, Duygu Selcen, et al.
JAMA Neurology|December 8, 2015
Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic DysfunctionElizabeth A Coon, J Eric Ahlskog, Marc C Patterson, et al.
Parkinsonism & Related Disorders|September 26, 2025
VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's diseaseLorenzo Malfer, Capucine Piat, Eduardo E Benarroch, et al.
Neurology. Genetics|January 16, 2019
A <i>tropomyosin-receptor kinase-fused</i> gene mutation associates with vacuolar myopathyNicolas N Madigan, Jennifer A Tracy, William J Litchy, et al.
Neuromuscular Disorders : NMD|January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalanceMichelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
Pageof 7